Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu časopisecké články
PubMed
32299589
DOI
10.1016/j.jacc.2020.02.033
PII: S0735-1097(20)34329-1
Knihovny.cz E-zdroje
- Klíčová slova
- KCNJ2, genetics, inherited arrhythmias, life-threatening arrhythmic events, sudden cardiac death,
- MeSH
- amiodaron aplikace a dávkování škodlivé účinky MeSH
- Andersenův syndrom komplikace genetika terapie MeSH
- antiarytmika aplikace a dávkování škodlivé účinky MeSH
- beta blokátory terapeutické užití MeSH
- databáze faktografické MeSH
- defibrilátory implantabilní MeSH
- dítě MeSH
- dospělí MeSH
- draslíkové kanály dovnitř usměrňující genetika MeSH
- elektrokardiografie MeSH
- genetické testování MeSH
- hodnocení rizik * MeSH
- kojenec MeSH
- komorová tachykardie etiologie terapie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- náhlá srdeční smrt epidemiologie MeSH
- předškolní dítě MeSH
- srdeční arytmie etiologie terapie MeSH
- svalová slabost etiologie MeSH
- synkopa etiologie terapie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- amiodaron MeSH
- antiarytmika MeSH
- beta blokátory MeSH
- draslíkové kanály dovnitř usměrňující MeSH
- KCNJ2 protein, human MeSH Prohlížeč
BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.
Arrhythmia and Electrophysiology Unit Instituto Nacional de Cardiologia Rio de Janeiro Brazil
Department of Cardiology and Electrotherapy Medical University of Gdansk Gdansk Poland
Department of Cardiology Hillel Yaffe Medical Center Hadera Israel
Department of Cardiology Hospital Clinico Universitario Valencia Spain
Department of Cardiology Hospital Clinico Universitario Virgen de La Arrixaca Murcia Spain
Department of Cardiology Hospital de Vinalopó Elche Spain
Department of Cardiology Hospital General Universitario de Alicante Alicante Spain
Department of Cardiology Hospital Infanta Cristina Badajoz Spain
Department of Cardiology Marqués de Valdecilla University Hospital Santander Spain
Department of Cardiology Medical University of Silesia Katowice Poland
Department of Cardiology Onassis Cardiac Surgery Center Athens Greece
Department of Cardiology Virgen de las Nieves University Hospital Granada Spain
Department of Congenital Heart Diseases National Institute of Cardiology Warsaw Poland
Department of Molecular Medicine University of Pavia Pavia Italy
Department of Pediatrics University of Medicine Hospital Stara Zagora Bulgaria
Department of Statistics and Quantitative Methods University of Milan Bicocca Milan Italy
Health in Code La Coruña Spain
Molecular Cardiology IRCCS ICS Maugeri Pavia Italy
NEMO Center Neurorehabilitation Unit University of Milan ASST Niguarda Hospital Milan Italy
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